Congenital paraplegia, with partial improvement over the first months of life, occurred in a female neonate born at 35 weeks' gestation, whose mother had suffered hypotension and hypoxaemia due to anaphylaxis 12 weeks earlier. Our patient subsequently had an acute encephalopathy during a respiratory illness with later developmental delay. We speculate that the baby's paraplegia resulted from spinal-cord ischaemia in utero. The aim of this report is to describe the spinal presentation.
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http://dx.doi.org/10.1017/s0012162299000584 | DOI Listing |
BMJ Case Rep
December 2024
Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India
Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to make informed decisions about the pregnancy and to plan early interventions.
View Article and Find Full Text PDFCureus
October 2024
Spine Surgery, Shiga General Hospital, Shiga, JPN.
There are few reports of syndromic scoliosis accompanied by a congenital vertebral anomaly. We report a case of Sotos syndrome with a concomitant congenital wedged vertebra whose kyphoscoliosis progressed rapidly and presented with myelopathy during the growth-spurt period. A 12-year-old male suffering from Sotos syndrome with T10-wedged vertebra presented with paraparesis and urinary dysfunction.
View Article and Find Full Text PDFL1CAMs are immunoglobulin superfamily cell adhesion molecules that ensure proper nervous system development and function. In addition to being associated with the autism and schizophrenia spectrum disorders, mutations in the L1CAM family of genes also underlie distinct developmental syndromes with neurological conditions, such as intellectual disability, spastic paraplegia, hypotonia and congenital hydrocephalus. Studies in both vertebrate and invertebrate model organisms have established conserved neurodevelopmental roles for L1CAMs; these include axon guidance, dendrite morphogenesis, synaptogenesis, and maintenance of neural architecture, among others.
View Article and Find Full Text PDFAm J Med Genet A
February 2025
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Front Neurosci
August 2024
Department of Neurorehabilitation, IRCCS E. Medea Scientific Institute, Conegliano, Italy.
Background: Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.
Methods: A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions.
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